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Primary Immunodeficiencies

At a glance

A heterogenous group of genetic disorders characterized by a congenital deficit in humoral or cellular immunity.

Synonyms

☞Wiskott-Aldrich Syndrome; Ataxia-Telangiectasia Syndrome; ☞DiGeorge Syndrome; ☞Velocardiofacial Syndrome; ☞CHARGE Syndrome; Schimke Immuno-Osseous Dysplasia; ☞Netherton Syndrome; ☞Coats Disease; ☞Kabuki Syndrome; ☞SCID, X-linked Agammaglobulinemia Syndrome; µ Heavy Chain Deficiency; PIK3R1 Deficiency; NFKB1 Deficiency; AID Deficiency; ☞Chediak-Higashi Syndrome; ☞Griscelli Syndrome;☞Hermansky-Pudlak Syndrome; ☞Kostmann Disease; ☞Barth Syndrome; ☞Papillon-Lefèvre Syndrome; ☞Shwachman-Diamond Syndrome; ☞Cystic Fibrosis; IL-12 and IL-23 Receptor β1 Chain Deficiency; EVER1 Deficiency; STAT1 Deficiency; TLR3 Deficiency; CARD9 Deficiency; IRAK-4 Deficiency; ☞Aicardi-Goutieres Syndrome; ☞Familial Mediterranean Fever; ☞Muckle-Wells Syndrome; ☞Cherubism, C1q Deficiency; C2 Deficiency; Thrombomodulin Deficiency; Autoimmune Lymphoproliferative Syndrome; ☞Pulmonary Alveolar Proteinosis; Good Syndrome.

History

Evolving field of (new) primary immunodeficiencies in humans. Developed in 1970 under the auspices of the World Health Organization (WHO) following an initiative of Drs Fudenberg, Good, Hitzig, Kunkel, Roitt, Rosen, Rowe, Seligmann, and Soothill. Now monitored and updated biannually by the International Union of Immunological Societies.

Classification

See Table P-5. Primary Immunodeficiencies are classified into combined immunodeficiencies, combined immunodeficiencies with syndromic features, predominantly antibody deficiencies, diseases of immune dysregulation, defects of phagocyte number or function, defects in intrinsic and innate immunity, lists autoinflammatory diseases, complement deficiencies, and phenocopies of inborn errors of immunity.

TABLE P-5Classification of Primary Immunodeficiencies
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TABLE P-5 Classification of Primary Immunodeficiencies
Type Disease Examples
1. Immunodeficiencies affecting cellular and humoral immunity

- TB + severe combined immune deficiency (☞SCID)

- TB − severe combined immune deficiency (☞SCID)

- Combined immunodeficiencies generally less profound than severe combined immunodeficiency

 ☞SCID
2. Combined immunodeficiencies with associated or syndromic features

- Immunodeficiency with congenital thrombocytopenia

- DNA repair defects

- Thymic defects with additional congenital anomalies

- Immuno-osseous dysplasias

- Hyper IgE Syndromes

- Dyskeratosis congenita (DKC), myelodysplasia, short telomeres

- Defects of vitamin B12 and folate metabolism

- Anhidrotic ectodermodysplasia with immunodeficiency

- Calcium channel defects

☞Wiskott-Aldrich Syndrome

Ataxia-telangiectasia, ☞DiGeorge Syndrome, ☞Velocardiofacial Syndrome, ☞CHARGE Syndrome, Schimke immuno-osseous dysplasia, ☞Netherton Syndrome, ☞Coats Disease, ☞Kabuki Syndrome
3. Predominantly antibody deficiencies

- Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells, agammaglobulinemia

- Severe reduction in at least two serum immunoglobulin isotypes with normal or low number of B cells, CVID phenotype

- Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells, hyper IgM

- Isotype, light chain, or functional deficiencies with generally normal numbers of B cells

 X-linked agammaglobulinemia, µ heavy chain deficiency, PIK3R1 deficiency, NFKB1 deficiency, AID deficiency
4. Diseases of immune dysregulation

- Familial hemophagocytic lymphohistiocytosis

- FHL Syndromes with hypopigmentation

- Regulatory T cell defects

- Autoimmunity with or without lymphoproliferation

- Autoimmune Lymphoproliferative Syndrome

- Susceptibility to EBV and lymphoproliferative conditions

 ☞Chediak-Higashi Syndrome, ☞Griscelli Syndrome,☞Hermansky-Pudlak Syndrome
5. Congenital defects of ...

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